{"orpha":209341,"name":"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED1"],"definition":null,"note":"This disease is described under Autosomal dominant childhood-onset proximal spinal muscular atrophy","url":"https://raremap.alftech.space/d/ORPHA-209341/","orphanet_url":"https://www.orpha.net/en/disease/detail/209341","names":{"fr":{"name":"Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1","synonyms":["Amyotrophie spinale proximale autosomique dominante de l'enfance avec prédominance des membres inférieurs associée à DYNC1H1","SMALED1"]},"de":{"name":"DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie","synonyms":["DYNC1H1-assoziierte autosomal-dominante proximale spinale Muskelatrophie vorwiegend der unteren Extremitäten","SMALED1"]},"es":{"name":"Atrofia muscular espinal proximal asociada a DYNC1H1 autosómica dominante de inicio en la infancia","synonyms":["Atrofia muscular espinal proximal asociada a DYNC1H1 con predominio en extremidades inferiores autosómica dominante","SMALED1"]},"it":{"name":"Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia, senza contratture","synonyms":["Atrofia muscolare spinale prossimale, autosomica dominante, con coinvolgimento prevalente degli arti inferiori, senza contratture","SMALED1"]},"nl":{"name":"DYNC1H1-gerelateerde autosomaal dominante proximale spinale musculaire atrofie met aanvang in de kindertijd","synonyms":["DYNC1H1-gerelateerde autosomaal dominante proximale spinale musculaire atrofie van voornamelijk de onderste ledematen","SMALED1"]},"pt":{"name":"Atrofia muscular espinhal proximal de início na infância autossómica dominante DYNC1H1-relacionada","synonyms":["Atrofia muscular espinhal proximal autossómica dominante de início na infância"]},"pl":{"name":"Autosomalny dominujący zanik mięśni odcinka bliższego kręgosłupa związany z DYNC1H1 objawiający się w dzieciństwie","synonyms":["Autosomalny dominujący proksymalny rdzeniowy zanik mięśni bez przykurczów z przewagą w kończynach dolnych","SMALED1"]},"cs":{"name":"Autozomálně dominantní proximální svalová atrofie bez kontraktur nastupující v dětství","synonyms":["SMALED1","Autozomálně dominantní proximální svalová atrofie predominantně na dolních končetinách bez kontraktur"]},"uk":{"name":"DYNC1H1-повязана аутосомно-домінантна проксимальна спінальна мязова атрофія, що починається в дитячому віці","synonyms":["DYNC1H1-асоційована аутосомно-домінантна проксимальна спінальна мязова атрофія нижніх кінцівок","SMALED1"]},"zh":{"name":"DYNC1H1基因相关的常染色体显性遗传儿童期起病的近端脊髓性肌萎缩症","synonyms":["DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED1"]},"tr":{"name":"DYNC1H1 -ilişkili otozomal dominant çocukluk dönemi başlangıçlı proksimal spinal musküler atrofi","synonyms":["DYNC1H1-ilişkili alt ekstremite baskın otozomal baskın proksimal spinal kas atrofisi","SMALED1"]}},"xrefs":[{"source":"OMIM","code":"158600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G12.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008026","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5780022","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13519","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":363447,"name":"Autosomal dominant childhood-onset proximal spinal muscular atrophy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DYNC1H1","name":"dynein cytoplasmic 1 heavy chain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22459677[PMID]","hgnc":"2961","ensembl":"ENSG00000197102","omim":"600112","loci":["14q32.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20697106[PMID]_22459677[PMID]_22847149[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"20697106[PMID]_22459677[PMID]_22847149[PMID]"}],"phenotypes":null}